Summaries for Citrullinemia

CDC:2 The Countermeasure Inventory Tracking (CIT) Dashboard is a national system used by federal and state emergency response authorities, which provides the ability to track the availability of critical medical and non-medical countermeasures within the commercial drug sector as well as state public health agencies during public health emergencies. By receiving timely data on inventory and distribution of key pharmaceuticals and medical supplies, CDC will be better prepared to ensure that critical countermeasures reach vulnerable populations during an emergency. Voluntary participation of pharmaceutical and medical equipment suppliers is essential to successful planning for events that may impact our national future.

Disease Ontology:11 An urea cycle disorder that involves the accumulation of ammonia in the blood.

Genetics Home Reference:24 Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

NIH Rare Diseases:46 Citrullinemia type i is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. this condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. in most cases, the condition becomes evident in the first few days of life. affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. citrullinemia type i is caused by mutations in the ass1 gene. it is inherited in an autosomal recessive pattern.
last updated: 4/20/2010

UniProtKB/Swiss-Prot:68 Citrullinemia 1: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood.

Wikipedia:69 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease. (12787807)

Imamura Y.... Saheki T.

2003

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Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. (11941481)